Living-related kidney transplantation in a patient with Bardet-Biedl syndrome

Background. Bardet–Biedl syndrome (BBS) is a hereditary diencephalic-retinal disorder characterized by a combination of clinical features, including obesity, mental retardation, retinal degeneration, brachydactyly, polydactyly, hypogenitalism, and renal dysfunction. Up to 25% of patients develop end-stage chronic renal failure requiring renal replacement therapy or kidney transplant (KT), often during childhood. Objective: to present the treatment outcomes of severe chronic renal failure in a 16-year-old female patient with the rare genetic condition BBS, who previously underwent KT from a related donor at the age of 6. Materials and methods. A retrospective analysis was conducted of the patient’s medical records, including the clinical course of the disease, laboratory and instrumental findings, and details of the treatment provided to the 16-year-old patient diagnosed with BBS. Results. On November 25, 2015, an AB0-compatible related (the patient’s father) KT was performed on the right side. Maintenance immunosuppressive therapy included tacrolimus, mycophenolic acid, methylprednisolone. Immediate graft function was observed after the surgery. At the follow-up consultation on November 13, 2024, the patient was receiving tacrolimus (Prograf) 1.5 mg twice daily, mycophenolic acid 180 mg twice daily, methylprednisolone 4 mg per day orally, as well as Cardiomagnyl and Omeprazole 20 mg orally. Laboratory findings showed a serum creatinine level of 65.9 μmol/L, with an estimated glomerular filtration rate calculated using the CKD-EPI equation of 119.72 mL/min/1.73 m². Conclusion. Despite the presence of severe congenital pathologies associated with BBS, this clinical case presents a successful KT with minimal complications in both the early and long-term postoperative periods.

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